Incidental Mutation 'R6327:Gm11595'
| ID |
510483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm11595
|
| Ensembl Gene |
ENSMUSG00000078668 |
| Gene Name |
predicted gene 11595 |
| Synonyms |
|
| MMRRC Submission |
044481-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R6327 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
99771714-99772913 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 99772555 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 100
(R100C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107440]
|
| AlphaFold |
B1AQA7 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000107440
AA Change: R100C
|
| SMART Domains |
Protein: ENSMUSP00000103064
Gene: ENSMUSG00000078668
AA Change: R100C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Keratin_B2_2
|
1 |
47 |
7.5e-9 |
PFAM |
|
Pfam:Keratin_B2_2
|
14 |
58 |
2.8e-13 |
PFAM |
|
Pfam:Keratin_B2_2
|
29 |
73 |
1.2e-13 |
PFAM |
|
Pfam:Keratin_B2_2
|
72 |
112 |
2.3e-12 |
PFAM |
|
Pfam:Keratin_B2_2
|
107 |
152 |
4.6e-14 |
PFAM |
|
Pfam:Keratin_B2_2
|
118 |
162 |
1.1e-13 |
PFAM |
|
Pfam:Keratin_B2_2
|
143 |
187 |
3.5e-10 |
PFAM |
|
Pfam:Keratin_B2_2
|
168 |
212 |
5.6e-13 |
PFAM |
|
Pfam:Keratin_B2_2
|
178 |
222 |
2.4e-12 |
PFAM |
|
Pfam:Keratin_B2_2
|
208 |
257 |
1.6e-11 |
PFAM |
|
Pfam:Keratin_B2_2
|
223 |
267 |
4e-14 |
PFAM |
|
Pfam:Keratin_B2_2
|
248 |
289 |
9e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,558,692 (GRCm38) |
|
probably null |
Het |
| Birc6 |
C |
A |
17: 74,662,779 (GRCm38) |
H383Q |
probably damaging |
Het |
| C2 |
C |
A |
17: 34,864,103 (GRCm38) |
A431S |
probably benign |
Het |
| C3ar1 |
C |
T |
6: 122,850,146 (GRCm38) |
V371M |
probably damaging |
Het |
| Chd1l |
G |
A |
3: 97,587,167 (GRCm38) |
A399V |
probably damaging |
Het |
| Ckap2l |
A |
G |
2: 129,285,494 (GRCm38) |
S255P |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,730,797 (GRCm38) |
I842F |
probably benign |
Het |
| Cmc2 |
G |
T |
8: 116,894,157 (GRCm38) |
H28Q |
probably damaging |
Het |
| Col11a2 |
C |
T |
17: 34,043,317 (GRCm38) |
P176L |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,881,387 (GRCm38) |
D1404G |
probably damaging |
Het |
| Dld |
G |
A |
12: 31,332,191 (GRCm38) |
P506S |
probably benign |
Het |
| Dsg3 |
T |
C |
18: 20,539,870 (GRCm38) |
M866T |
probably benign |
Het |
| Ehd1 |
T |
C |
19: 6,298,345 (GRCm38) |
I451T |
possibly damaging |
Het |
| Fosb |
T |
C |
7: 19,307,227 (GRCm38) |
T114A |
probably benign |
Het |
| Foxd4 |
T |
A |
19: 24,900,834 (GRCm38) |
M1L |
possibly damaging |
Het |
| Fstl5 |
T |
A |
3: 76,707,801 (GRCm38) |
I723N |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,464,305 (GRCm38) |
|
probably benign |
Het |
| Hdlbp |
A |
G |
1: 93,429,464 (GRCm38) |
S299P |
possibly damaging |
Het |
| Mast4 |
G |
A |
13: 102,761,382 (GRCm38) |
R650C |
probably damaging |
Het |
| Micu3 |
A |
G |
8: 40,366,197 (GRCm38) |
T306A |
probably benign |
Het |
| Mylk2 |
A |
G |
2: 152,913,693 (GRCm38) |
Q259R |
possibly damaging |
Het |
| Nfkbiz |
T |
C |
16: 55,821,962 (GRCm38) |
N31S |
probably damaging |
Het |
| Nisch |
A |
T |
14: 31,171,487 (GRCm38) |
|
probably benign |
Het |
| Nudt17 |
T |
C |
3: 96,707,764 (GRCm38) |
|
probably benign |
Het |
| Olfr1389 |
A |
C |
11: 49,431,001 (GRCm38) |
H175P |
probably damaging |
Het |
| Olfr292 |
T |
C |
7: 86,694,552 (GRCm38) |
V32A |
probably benign |
Het |
| Olfr541 |
T |
C |
7: 140,704,703 (GRCm38) |
W151R |
probably damaging |
Het |
| Oprm1 |
A |
C |
10: 6,830,063 (GRCm38) |
I242L |
probably damaging |
Het |
| Otud6b |
A |
G |
4: 14,826,496 (GRCm38) |
|
probably benign |
Het |
| Pamr1 |
A |
T |
2: 102,642,174 (GRCm38) |
D606V |
probably damaging |
Het |
| Pcf11 |
T |
C |
7: 92,659,609 (GRCm38) |
|
probably benign |
Het |
| Pom121l2 |
T |
C |
13: 21,982,332 (GRCm38) |
S258P |
probably damaging |
Het |
| Rcsd1 |
T |
A |
1: 165,655,834 (GRCm38) |
D196V |
possibly damaging |
Het |
| Sbf2 |
C |
T |
7: 110,441,552 (GRCm38) |
R356Q |
probably damaging |
Het |
| Serpinf1 |
A |
G |
11: 75,413,905 (GRCm38) |
|
probably null |
Het |
| Slc22a30 |
T |
G |
19: 8,335,722 (GRCm38) |
|
probably benign |
Het |
| Strn4 |
G |
T |
7: 16,816,459 (GRCm38) |
S36I |
probably benign |
Het |
| Taar6 |
A |
G |
10: 23,985,279 (GRCm38) |
L123P |
probably damaging |
Het |
| Thbs1 |
G |
T |
2: 118,112,656 (GRCm38) |
R5L |
unknown |
Het |
| Timp3 |
T |
C |
10: 86,345,786 (GRCm38) |
Y174H |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,932,227 (GRCm38) |
V813M |
probably damaging |
Het |
| Uox |
C |
T |
3: 146,624,577 (GRCm38) |
R163* |
probably null |
Het |
| Vcan |
A |
T |
13: 89,704,832 (GRCm38) |
S670T |
probably damaging |
Het |
| Vmn1r65 |
A |
T |
7: 6,008,652 (GRCm38) |
N194K |
possibly damaging |
Het |
|
| Other mutations in Gm11595 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00579:Gm11595
|
APN |
11 |
99,772,042 (GRCm38) |
missense |
unknown |
|
|
IGL00987:Gm11595
|
APN |
11 |
99,772,539 (GRCm38) |
missense |
unknown |
|
|
IGL01662:Gm11595
|
APN |
11 |
99,772,672 (GRCm38) |
missense |
unknown |
|
|
IGL01994:Gm11595
|
APN |
11 |
99,772,201 (GRCm38) |
missense |
unknown |
|
|
R0548:Gm11595
|
UTSW |
11 |
99,772,141 (GRCm38) |
missense |
unknown |
|
|
R1923:Gm11595
|
UTSW |
11 |
99,772,539 (GRCm38) |
missense |
unknown |
|
|
R2127:Gm11595
|
UTSW |
11 |
99,772,501 (GRCm38) |
missense |
unknown |
|
|
R2128:Gm11595
|
UTSW |
11 |
99,772,501 (GRCm38) |
missense |
unknown |
|
|
R3807:Gm11595
|
UTSW |
11 |
99,772,554 (GRCm38) |
missense |
unknown |
|
|
R4007:Gm11595
|
UTSW |
11 |
99,772,035 (GRCm38) |
missense |
unknown |
|
|
R5281:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R5283:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R5303:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R5305:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R5306:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R5307:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R5308:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R5561:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R5637:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R5639:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R5718:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R5719:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R5720:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R5721:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R5769:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R5770:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R5771:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R5791:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R5841:Gm11595
|
UTSW |
11 |
99,772,317 (GRCm38) |
missense |
unknown |
|
|
R6054:Gm11595
|
UTSW |
11 |
99,772,648 (GRCm38) |
missense |
unknown |
|
|
R6277:Gm11595
|
UTSW |
11 |
99,772,684 (GRCm38) |
missense |
unknown |
|
|
R6281:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R6282:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R6310:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R6321:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R6322:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R6337:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R6368:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R6369:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R6431:Gm11595
|
UTSW |
11 |
99,772,774 (GRCm38) |
missense |
unknown |
|
|
R6483:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R6485:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R6493:Gm11595
|
UTSW |
11 |
99,772,555 (GRCm38) |
missense |
unknown |
|
|
R6758:Gm11595
|
UTSW |
11 |
99,772,541 (GRCm38) |
nonsense |
probably null |
|
|
R6758:Gm11595
|
UTSW |
11 |
99,772,540 (GRCm38) |
missense |
unknown |
|
|
R7037:Gm11595
|
UTSW |
11 |
99,772,648 (GRCm38) |
missense |
unknown |
|
|
R8053:Gm11595
|
UTSW |
11 |
99,772,128 (GRCm38) |
missense |
unknown |
|
|
R8911:Gm11595
|
UTSW |
11 |
99,772,738 (GRCm38) |
missense |
unknown |
|
|
R9632:Gm11595
|
UTSW |
11 |
99,772,271 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGAACTACCACAGCAGGGG -3'
(R):5'- ACCATGGTCAGTTCCTGTTGTG -3'
Sequencing Primer
(F):5'- CGACAGCAGCTGGAGATG -3'
(R):5'- TGCCAGACCACCTGCTGTAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation